Disease Name:
Amyloidosis, Hereditary, Transthyretin-Related
ISA Name:
ATTRv Amyloidosis
Alternative Names:
Familial Transthyretin Cardiac Amyloidosis
Hereditary Amyloidosis, Transthyretin-Related
Transthyretin Amyloidosis
Familial amyloid polyneuropathy type I (Portuguese-Swedish-Japanese Type)
TTR amyloid neuropathy
Transthyretin amyloid polyneuropathy
Familial amyloid polyneuropathy (FAP)
Familial Oculoleptomeningeal Amyloidosis
FOLMA
Leptomeningeal Amyloidosis
ATTR cardiomyopathy
TTR-related amyloid cardiomyopathy
TTR-related cardiac amyloidosis
Transthyretin amyloid cardiopathy
Transthyretin-related familial amyloid cardiomyopathy
Amyloid polyneuropathy, familial
Appalachian Type Familial Amyloid Polyneuropathy
Familial Amyloid Neuropathy, Andrade Type
Amyloid Neuropathy Type 1
Amyloid Polyneuropathy, Swiss Type
Amyloid Polyneuropathy, British Type
British Type Amyloid Polyneuropathy
Familial Amyloid Neuropathy, Portuguese Type
Familial Amyloid Polyneuropathy, Appalachian Type
Familial Amyloid Polyneuropathy, Jewish Type
Familial Amyloid Polyneuropathy, Jewish Type I
Familial Amyloid Polyneuropathy, Type II
Familial Portuguese Polyneuritic Amyloidosis
Jewish Type Familial Amyloid Polyneuropathy
Polyneuritic Amyloidosis, Portuguese
Portuguese Polyneuritic Amyloidosis
Portuguese Type Familial Amyloid Neuropathy
Swiss Type Amyloid Polyneuropathy
Type I Familial Amyloid Polyneuropathy
Type II Familial Amyloid Polyneuropathy
Wohlwill-Andrade Syndrome
Wohlwill-Corino Andrade Syndrome
Transthyretin amyloid neuropathy
Hereditary transthyretin-related amyloidosis
MeSH Description:
Hereditary disorder characterized by amyloid deposits in the extracellular matrix of different tissues. Patients present polyneuropathy; carpal tunnel syndrome, autonomic insufficiency, cardiomyopathy, and gastrointestinal symptoms. A dominant mutation (V30M) in the TTR gene has been identified.
Type:
Amyloidosis
ICD-10 Classification
Amyloidosis
Tissue:
Peripheral Nervous System (PNS), Kidney, Autonomic Nervous System (ANS), Eye, Gastrointestinal Tract, Heart
Precursor Proteins:
P02766: Transthyretin
Primary Name:
Transthyretin
Gene Name:
TTR
Alternative Protein Names:
Transthyretin (ATTR) (Prealbumin) (TBPA)
ISA Nomenclature:
ATTR
Protein Length:
147
Precursor Protein Sequence:
MASHRLLLLCLAGLVFVSEAGPTGTGESKCPLMVKVLDAVRGSPAINVAVHVFRKAADDTWEPFASGKTSESGELHGLTTEEEFVEGIYKVEIDTKSYWKALGISPFHEHAEVVFTANDSGPRRYTIAALLSPYSYSTTAVVTNPKE
UniProt AC:
P02766
UniProt ID:
TTHY_HUMAN
AmyPro:
AP00006
Co-deposited Proteins:
No information available
